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- B371f944e22488396c12c2e6dace3e2d7 hasDbXref "Orphanet:33" @default.
- B371f944e22488396c12c2e6dace3e2d7 type Axiom @default.
- B371f944e22488396c12c2e6dace3e2d7 annotatedProperty IAO_0000115 @default.
- B371f944e22488396c12c2e6dace3e2d7 annotatedSource MONDO_0009475 @default.
- B371f944e22488396c12c2e6dace3e2d7 annotatedTarget "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." @default.